ACHONDROPLASIA
DR. O.KUMARESAN
SMCH, CHENNAI
ANAESTHETIC MANAGEMENT OF
FAMILIAL ACHONDROPLASTIC
DWARF
 This report describes the successful
management of a 20 year old female miss.Jothi,
a familial achondroplastic dwarf with height
of 120 cm and weight of 38kg taken up for
emergency appendicectomy.
 Procedure was done under endotracheal tube
general anaesthesia with controlled ventilation.
CASE REPORT
While assessing, no relevant medical or surgical
history was found. Physical examination
revealed her height as 120 cm and weight 38 kg
with typical features of achondroplasia Relatively large head with short limbs,
mild kyphoscoliosis of the thoracolumbar spine,
impalpable Lumbar vertebrae,
short neck with limited extention,<30*
mouth opening adequate, airway III (MPC),
trachea midline and normal chest movements.
peripheral IV access was difficult due to
excessive soft tissues. Other systems and
parameters were normal
CASE REPORT contd
Pre operative investigations were normal with
Hb of 10gm.
In the operation theatre, the patient was
monitored with pulse oximeter, ECG and NIBP.
With difficulty , left Basilic vein was cannulated
with an 18 G IV cannula.
ETGA with IPPV was planned. Emergency
Airway management cart kept ready. Started
with premed inj. Glycopyrrolate 0.2 mg. IV ; Inj.
Midazolam 1 mg. IV ; Inj. Fentanyl 80 mic.gm.
IV.
Pre oxygenation was done for 5 minutes.
CASE REPORT contd
Anaesthesia was induced with inj. Propofol 80 mg IV. Inj.
Suxamethonium 80 mg. IV was used to facilitate the
insertion of 6.5 mm cuffed oral ETT.
Intubation was difficult because of restricted neck
movements. Cormack and lehane”s grade 2 view
Managed with Optimal External Laryngeal Manipulation
.
Anaesthesia was maintained with nitrous oxide 4 Ltrs
and oxygen 2 Ltrs in Closed circuit.
Atracurium was used as muscle relaxant. Intraop vitals
were stable. Procedure lasted for 70 minutes.
Intraoperatively 700ml of IV crystalloids was given.
CASE REPORT contd
Reversal of residual paralysis was done with
neostigmine 2.0mg and glycopyrrolate 0.4mg IV.
Spontaneos ventilation was quickly established.
After extubation patient was given 100%oxygen
by face mask for 10 minutes.
Patient was monitored and remained clinically
well.
Post operatively Inj. Diclofenac 50 mg IM thrice
a day was given for analgesia.
Patient was given chest physiotherapy to avoid
post operative respiratory complications.
DWARFISM
 abnormal underdevelopment of the body, characterized
predominantly by extreme shortness of stature,
 associated with numerous other defects and may involve
varying degrees of mental retardation.
 Dwarfism has multiple causes, including genetic defects,
endocrine dysfunction involving either the pituitary or the
thyroid gland, chronic diseases such as rickets, renal
failure, intestinal malabsorption defects, and psychosocial
stress, as in the maternal deprivation syndrome.
 The Little People of America (LPA) define dwarfism as an
adult height of 148 cm (4 feet 10 inches) or less. Also
known as nanism.
 Dwarfism is now more correctly called short stature.
ACHONDROPLASIA
Non-lethal form of short limbed dwarfism presenting
at birth (rhizomelic form-proximal shortening) with an
incidence of 0.5 – 1.5 / 10,000 live births.
Transmission is by an autosomal dominant gene.
80% spontaneous mutation
20% are familial
mutation in the FGFR-3 gene.
The commonest form of dwarfism and a relatively
rare condition.
normal periosteal bone deposition coupled with
failure of endochondral bone formation.
Abnormolities in chondrogenesis and osteogenesis.
ACHONDROPLASIA contd
Mental functions and muscular
development are normal with low fertility
rates.
Pre maturity is frequent but those surviving
first year of life generally have a normal
life expectancy
Due to overall appearance employed as
clowns in the circus
ACHONDROPLASIA contd
Orthopedic problems
Disparity between axial & appendicular skeleton
Tubular bones – short & wide abnormal
metaphysis
skull base uder developed
Sternal prominence with pectus carinatum
Narrow pelvic outlet
kyphoscoliosis and genuvarum are common.
Flexion contracture of hip
Trident hand
ACHONDROPLASIA contd
Hallmark- progressive narrowing of
interpedicular distance in the lumbarspine
towards caudal direction
SURGERIES
limb lengthening procedures
Surgical Decompression- for narrow
spinal canal
Realignment osteotomies-genu varum
SPINAL STENOSIS
X –RAY SKULL
X-RAY CHEST
SPINE & RIBS
FEMUR & KNEE JOINT
HUMERUS
HANDS
GENERAL ANAESTHESIA
Anaesthesia-both regional and general
pose problems for Achondroplastic dwarf.
The intubation may be difficult due to
craniofacial deformity,
restricted neck movements,
short neck, large tongue, small
larynx
Hence a small ETT may be required.
GENERAL ANAESTHESIA
Review of data by MAYHEW et al suggest that
age based formula for selecting ETT size for
children is.
Tube size (mm ID) = [ Age (Yr) + 16 ] / 4
predicts correct size.
These patients also have narrow nasal
passages and pharyngeal hypoplasia as a result
of dysplasia and angulation of cranial base.
Sternal prominence with pectus carinatum
interfere with midline positioning of
laryngoscope. Hence the use of laryngoscope
with small handle is indicated.
GENERAL ANAESTHESIA
Hyperextension of neck should be avoided to
prevent cord compression because foramen
magnum stenosis is common.
Requirement of drugs including inducing
agents and relaxants is judged on body weight
basis.
Patients may have restrictive lung disease from
rib hypoplasia, thoracic lordosis, leading to
corpulmonale. Central and obstructive sleep
apnoea is common.
Because of all these factors adequate post
operative physiotherapy is needed
REGIONAL ANAESTHESIA
Regional anaesthesia may be technically difficult
because of poor landmarks.
A relatively narrow spinal canal may result in
cord compression.
Prolapsed discs and deformed vertebral bodies
are common in elderly Achondroplastics. The
possibility of herniation with neurological
symptoms and paraplegia may be against the
use of regional techniques.
REGIONAL ANAESTHESIA
A narrow epidural space makes catheter
insertion difficult and inadvertent
subarachnoid tap is likely.
SAB-results unpredictable level
Recognition of subarachnoid tap may be
difficult because free flow of CSF is
difficult due to foramen magnum stenosis
REGIONAL ANAESTHESIA
Epidural Anaesthesia is preferable to SAB
because it helps in titration of dose of LA
according to height of block.
Incremental dosage also prevents marked
hypotension and its associated
complications.
Anxiety may be greater for these patients
than normal persons. Hence the need for
a good rapport between the
Anesthesiologist and the patient.
CONCLUSION
The anaesthetic management of
Achondroplastic dwarf is a challenge.
All patients must be assessed preoperatively
to identify possible hazards.
The benefits and risks of GA and RA must
be considered.
TAKE CARE OF THE AGE RATHER THAN THE SIZE OF THE PATiIENT
THANK YOU